Eye Institute, Affiliated Hospital of Nantong University, Nantong, 226001, China.
Eye Institute, Affiliated Hospital of Nantong University, Nantong, 226001, China.
Exp Eye Res. 2021 Jan;202:108350. doi: 10.1016/j.exer.2020.108350. Epub 2020 Nov 20.
Primary angle closure glaucoma (PACG) is a multifactorial disease with genetic predisposition. Primary angle closure (PAC) is the early stage of PACG and they share the same anatomical characteristics. We aimed to examine whether the PACG associated-genetic loci identified previously by genome-wide association study (GWAS) were also related to primary angle closure disease (PACD) in Han Chinese. This cross-sectional case-control study consisted of 232 PAC, 264 PACG and 306 controls. Eight single-nucleotide polymorphisms (SNPs) of PACG susceptibility loci within PLEKHA7, COL11A1, PCMTD1-ST18, EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102A were genotyped using participants' blood samples. We excluded 3 SNPs for PAC analysis because the data has been reported using the same sample set. Anatomical parameters such as axial length (AL), anterior chamber depth (ACD) and lens thickness (LT) were included as phenotypes for the association analysis. Allelic and genotypic model tests were performed. Three among the eight SNPs were found to be significantly associated with PACG, e.g. PLEKHA7 rs11024102 in additive, dominant and recessive model; and both CHAT rs1258267 and DPM2-FAM102A rs3739821 in dominant model. CHAT rs1258267 showed marginal association with PAC in dominant model. Anatomical parameters were not found to link to the eight SNPs after Bonferroni multiple test correction. Our data suggest that PLEKHA7 and DPM2-FAM102A might exert effect in the late stage of the PACD, while CHAT may play a broad role in both early and late stages of the PACD.
原发性闭角型青光眼（PACG）是一种具有遗传易感性的多因素疾病。原发性房角关闭（PAC）是 PACG 的早期阶段，它们具有相同的解剖特征。我们旨在研究以前通过全基因组关联研究（GWAS）确定的 PACG 相关遗传位点是否也与汉族人群的原发性房角关闭疾病（PACD）有关。这项横断面病例对照研究包括 232 例 PAC、264 例 PACG 和 306 例对照。使用参与者的血液样本对 PLEKHA7、COL11A1、PCMTD1-ST18、EPDR1、CHAT、GLIS3、FERMT2 和 DPM2-FAM102A 中 PACG 易感性位点的 8 个单核苷酸多态性（SNP）进行基因分型。我们排除了 3 个用于 PAC 分析的 SNP，因为使用相同的样本集已经报道了这些数据。轴长（AL）、前房深度（ACD）和晶状体厚度（LT）等解剖参数作为关联分析的表型。进行了等位基因和基因型模型测试。在加性、显性和隐性模型中，PLEKHA7 中的 rs11024102 等 8 个 SNP 中的 3 个与 PACG 显著相关；CHAT 的 rs1258267 和 DPM2-FAM102A 的 rs3739821 均在显性模型中显著相关。CHAT 的 rs1258267 在显性模型中与 PAC 具有边缘相关性。Bonferroni 多重检验校正后，未发现解剖参数与 8 个 SNP 相关。我们的数据表明，PLEKHA7 和 DPM2-FAM102A 可能在 PACD 的晚期发挥作用，而 CHAT 可能在 PACD 的早期和晚期都发挥广泛作用。
